Canonical Allele Identifier: CA367637140

Gene: GUSB

Linked Data

• MyVariant Identifiers: chr7:g.65425936T>G (hg19) ; chr7:g.65960949T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65960949T>G , CM000669.2:g.65960949T>G	GRCh38
NC_000007.13:g.65425936T>G , CM000669.1:g.65425936T>G	GRCh37
NC_000007.12:g.65063371T>G	NCBI36
NG_016197.1:g.26366A>C
NG_051954.1:g.92851T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1904A>C MANE Select	ENSP00000302728.4:p.Tyr635Ser
ENST00000304895.8:c.1904A>C	ENSP00000302728.4:p.Tyr635Ser
ENST00000421103.5:c.1466A>C	ENSP00000391390.1:p.Tyr489Ser
ENST00000430730.5:c.*1171A>C	ENSP00000411859.1:n.*1171A>C
ENST00000447929.5:c.*1284A>C	ENSP00000411262.1:n.*1284A>C
ENST00000466883.5:n.2294A>C
NM_000181.3:c.1904A>C	NP_000172.2:p.Tyr635Ser
NM_001284290.1:c.1466A>C	NP_001271219.1:p.Tyr489Ser
NM_001293104.1:c.1334A>C	NP_001280033.1:p.Tyr445Ser
NM_001293105.1:c.1247A>C	NP_001280034.1:p.Tyr416Ser
NR_120531.1:n.1950A>C
XM_005250297.3:c.1751A>C	XP_005250354.1:p.Tyr584Ser
XM_011516113.1:c.1403A>C	XP_011514415.1:p.Tyr468Ser
XM_011516114.1:c.1232A>C	XP_011514416.1:p.Tyr411Ser
XM_005250297.4:c.1751A>C	XP_005250354.1:p.Tyr584Ser
XM_011516114.2:c.1232A>C	XP_011514416.1:p.Tyr411Ser
XM_017012091.1:c.1250A>C	XP_016867580.1:p.Tyr417Ser
XM_017012092.1:c.1181A>C	XP_016867581.1:p.Tyr394Ser
XM_017012093.2:c.1079A>C	XP_016867582.1:p.Tyr360Ser
XR_001744658.2:n.1711A>C
XR_001744659.2:n.1824A>C
XR_001744660.2:n.1756A>C
XR_001744661.2:n.1671A>C
XR_927461.3:n.1909A>C
NM_000181.4:c.1904A>C MANE Select	NP_000172.2:p.Tyr635Ser
NM_001284290.2:c.1466A>C	NP_001271219.1:p.Tyr489Ser
NM_001293104.2:c.1334A>C	NP_001280033.1:p.Tyr445Ser
NM_001293105.2:c.1247A>C	NP_001280034.1:p.Tyr416Ser
NR_120531.2:n.1849A>C